Varaico: Literature-Extracted Genetic Variants

Gene:SMARCAL1
Variant:p.L845Q
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SMARCAL1

NM_014140.4:p.L845Q

Associated Papers

A Novel De Novo NFKBIA Missense Mutation Associated to Ectodermal Dysplasia with Dysgammaglobulinemia.

Chear CT et al.

Genes, 2022

36292785 (PubMed )
Supplement: genes-13-01900-s001.zip › genes-1944565-supplementary.pdf
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